| Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glycogenin 1 | 0.722 | 0.308 | 4.8E-12 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2010 | 2018 | ||||||||
|
adenosine monophosphate deaminase 1 | 0.573 | 0.692 | 1.9E-21 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
myotilin | 0.695 | 0.385 | 3.4E-08 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2002 | 2004 | ||||||||
|
chloride voltage-gated channel 1 | 0.641 | 0.423 | 3.3E-20 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
misato mitochondrial distribution and morphology regulator 1 | 0.582 | 0.692 | 1.6E-09 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
dystroglycan 1 | 0.498 | 0.808 | 0.98 |
|
phenotype | 0.110 | None | < 0.001 | 1 | 0 | 2006 | 2006 | ||||||||
|
fukutin | 0.511 | 0.692 | 8.7E-07 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
collagen type VI alpha 2 chain | 0.599 | 0.692 | 6.5E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
torsin 1A interacting protein 1 | 0.729 | 0.346 | 1.3E-09 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
fibroblast growth factor 23 | 0.460 | 0.731 | 3.1E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
acyl-CoA dehydrogenase family member 9 | 0.722 | 0.269 | 4.5E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
DM1 protein kinase | 0.603 | 0.692 | 3.8E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
tRNA | 0.534 | 0.731 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
phenotype | 0.110 | None | 1.000 | 1 | 2 | 2005 | 2005 | ||||||||
|
transmembrane protein 126B | 0.716 | 0.385 | 1.9E-04 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | 0.644 | 0.615 | 2.8E-27 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
LDL receptor related protein 4 | 0.568 | 0.692 | 1.4E-06 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
TNF receptor superfamily member 11b | 0.422 | 0.808 | 0.16 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphogluconate dehydrogenase | 0.576 | 0.769 | 0.99 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
pyruvate kinase M1/2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
phospholipase A2 group IVA | 0.496 | 0.846 | 6.0E-05 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
protein arginine methyltransferase 8 | 0.743 | 0.231 | 0.98 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 |